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Term:familial erythrocytosis 3
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Accession:DOID:0080338 term browser browse the term
Definition:A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: ECYT3
 primary_id: MESH:C565221
 alt_id: DOID:9004799;   OMIM:609820;   RDO:0013924
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familial erythrocytosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egln1 egl-9 family hypoxia-inducible factor 1 JBrowse link 19 57,660,194 57,701,158 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      hematopoietic system disease 1451
        polycythemia 24
          primary polycythemia 20
            familial erythrocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                familial erythrocytosis 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.